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Maple syrup urine disease

From SNPedia

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.GHR

Recessively inherited mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease, and similarly, recessively inherited mutations in the DLD gene can cause dihydrolipoamide dehydrogenase deficiency, which is also known as maple syrup urine disease type III.